Varaico: Literature-Extracted Genetic Variants

Gene:BLMH
Variant:p.Q67E

BLMH

95 papers

RefSeq Summary

Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide b...

Pfam Domains

Peptidase_C1_2aa 5–451UCSCPeptidase C1-like family

Gene Aliases

HGNC Name

bleomycin hydrolase

HGNC Alias Symbol

BH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000386.4
p.Q67E
c.199C>G
Surrounding Variants
1 paper
NM_000386.4
p.N66K
c.198C>G
1 paper
NM_000386.4
p.N66K
c.198C>A
1 paper
NM_000386.4
p.T65A
c.193A>G
1 paper
NM_000386.4
p.H55N
c.163C>A
1 paper
NM_000386.4
p.Q54L
c.161A>T
1 paper
NM_000386.4
p.Q47H
c.141G>C
1 paper
NM_000386.4
p.L41V
c.121C>G
1 paper
NM_000386.4
p.D35Y
c.103G>T
1 paper
NM_000386.4
p.V30I
c.88G>A
1 paper
NM_000386.4
p.A27fs
c.79_80fs
1 paper
NM_000386.4
p.A27delFs
c.79delC
1 paper
NM_000386.4
p.L26H
c.77T>A
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